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-> Children's Health
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amother
OP
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 Sun, Jan 05 2020, 7:06 pm
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Our pa suspects that my dc 8yo has marfan syndrome, and wants him to see a geneticist and run some testing. Can any elaborate what that is? What are we in for? Tia
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amother
Chartreuse
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Sun, Jan 05 2020, 7:14 pm
Just FYI, most people who are suspected of having Marfan syndrome don't have it so please don't assume anything yet.
And if your dc does have it, a cardiologist can be helpful with monitoring the heart and giving medicine if necessary.
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amother
OP
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Sun, Jan 05 2020, 7:19 pm
| amother [ Chartreuse ] wrote: | Just FYI, most people who are suspected of having Marfan syndrome don't have it so please don't assume anything yet.
And if your dc does have it, a cardiologist can be helpful with monitoring the heart and giving medicine if necessary. |
That's the weird thing, bh he doesn't have any heart problems that we know of. He claims he's build, shape of hands, weak muscles is a sign.
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amother
Papaya
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Sun, Jan 05 2020, 8:01 pm
I went through this with ds recently. By a routine eye exam the eye dr saw something was off, and suggested we explore the possibility of marfans. Turns out He has many symptoms of marfans. (Off the charts Height and very skinny, eye issues, low tone/loose joints, concave chest...). Our pediatrician sent us to a cardiologist first, to rule out any issues. By all was ok but he told us to come back yearly for a check up. Next we worked with a geneticist. They did a full work up of ds, bloodwork, family medical history, his personal medical history, family history, social history, everything. They tested dh and I as well.
Turns out that despite his few symptoms, he doesn’t have the gene for marfans, so they couldn’t give us a definite answer, maybe yes maybe no. Maybe he has something similar. He definitely exhibits a few symptoms for now we’ll continue with regular eye checkups and cardio checkups. If anything else changes we’ll revisit the geneticist.
Don’t know what area you are in but Do you want dr numbers?
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amother
Periwinkle
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Sun, Jan 05 2020, 8:02 pm
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I know a family that has a couple of boys with Marfan. There's a range, some people are affected more than others. The older one was tested because of the things you mentioned, and it turned out he does have a mild cardiac issue that needs to be monitored, even though no one had ever picked up on it earlier. There are some similarities to ehlers danlos, so I'm assuming they will rule that out when you go for testing.
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amother
OP
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Sun, Jan 05 2020, 8:28 pm
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Oh my I'm freaking out, what are the side effects of this disease?
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amother
OP
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Sun, Jan 05 2020, 9:20 pm
| amother [ Papaya ] wrote: | I went through this with ds recently. By a routine eye exam the eye dr saw something was off, and suggested we explore the possibility of marfans. Turns out He has many symptoms of marfans. (Off the charts Height and very skinny, eye issues, low tone/loose joints, concave chest...). Our pediatrician sent us to a cardiologist first, to rule out any issues. By all was ok but he told us to come back yearly for a check up. Next we worked with a geneticist. They did a full work up of ds, bloodwork, family medical history, his personal medical history, family history, social history, everything. They tested dh and I as well.
Turns out that despite his few symptoms, he doesn’t have the gene for marfans, so they couldn’t give us a definite answer, maybe yes maybe no. Maybe he has something similar. He definitely exhibits a few symptoms for now we’ll continue with regular eye checkups and cardio checkups. If anything else changes we’ll revisit the geneticist.
Don’t know what area you are in but Do you want dr numbers? |
Our pa recommended Dr Pappas
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amother
Pumpkin
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Sun, Jan 05 2020, 10:28 pm
Don’t freak out. It’s not a scary diagnosis.
My cousin has it and she’s fine just needs to take meds and be monitored for her heart.
it is genetic so you and dh and other kids should get tested too.
Just want to add that it could also be a spontaneous mutation meaning you and dh didnt pass it to him. But he will pass it to his kids.
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amother
OP
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Sun, Jan 05 2020, 10:45 pm
| amother [ Pumpkin ] wrote: | Don’t freak out. It’s not a scary diagnosis.
My cousin has it and she’s fine just needs to take meds and be monitored for her heart.
it is genetic so you and dh and other kids should get tested too.
Just want to add that it could also be a spontaneous mutation meaning you and dh didnt pass it to him. But he will pass it to his kids. |
I nor dh knows anyone in the family with this disease. If our PA has checked our DC heart and it seems fine does that mean that he doesn't have it or do I still need to take DC for testing?
I am freaking out dc is 8 years old, we have gone for so many testing as he's very flimsy and has a hard time sitting still, DC sometimes has spontaneous anger which his OT claims comes from weakness in his muscles there not strong enough. Lately dc teacher has been complaining that he sees that he can't sit still due to his low muscle tone and DC should just do physical therapy and that will correct it. So we went to our PA for prescription and he told us to do some testing for it might be Marfan syndrome.
I hope I'm making sense It has been a long long day.
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Sunny Days
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Sun, Jan 05 2020, 10:48 pm
| amother [ OP ] wrote: | | Our pa recommended Dr Pappas |
He’s an exceptional Dr. Very thorough and extremely nice. Really gives you his time to discuss everything.
Hatzlacha!
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amother
Pumpkin
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Sun, Jan 05 2020, 10:49 pm
You need to have him tested. If it is marfans you want to know so you can monitor and prevent problems.
I just want you to know that if it is, don’t freak out. It’s not life threatening or scary.
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amother
OP
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Sun, Jan 05 2020, 10:50 pm
| gamzehyaavor wrote: | He’s an exceptional Dr. Very thorough and extremely nice. Really gives you his time to discuss everything.
Hatzlacha! |
Thank you for your encouragement. I really hope we don't have to go down this road and that it's nothing.
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amother
OP
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Sun, Jan 05 2020, 10:53 pm
| amother [ Pumpkin ] wrote: | You need to have him tested. If it is marfans you want to know so you can monitor and prevent problems.
I just want you to know that if it is, don’t freak out. It’s not life threatening or scary. |
What is the monitoring for? I'm really not understanding what this disease is all about. Do you think I should discuss it with dc OT before making an appointment with this doctor to see if he also believes that it might be? Should I go back to our old PA that I have more trust in to see what he has to say? Oh I'm so confused and scared.
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amother
Periwinkle
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Sun, Jan 05 2020, 10:53 pm
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Many of the features of Marfan syndrome overlap with other causes. So you'll want to do thorough testing to make sure you're receiving an accurate diagnosis. Not everyone with Marfan will have cardiac symptoms. Also, not everything will necessarily be related to the diagnosis. A child with Marfan can have behavioral/ emotional challenges, even though that isn't a symptom of Marfan. People are complicated and can have different things going on simultaneously.
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Sunny Days
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Sun, Jan 05 2020, 10:55 pm
| amother [ OP ] wrote: | | Thank you for your encouragement. I really hope we don't have to go down this road and that it's nothing. |
He’s the geneticist so he would be the one to discuss your initial concerns and which testing you should pursue/ what dx to rule out etc. just know that an appt to see him is a wait of months! His counselor is really nice and sweet as well btw.
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amother
OP
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Sun, Jan 05 2020, 10:59 pm
| amother [ Periwinkle ] wrote: | | Many of the features of Marfan syndrome overlap with other causes. So you'll want to do thorough testing to make sure you're receiving an accurate diagnosis. Not everyone with Marfan will have cardiac symptoms. Also, not everything will necessarily be related to the diagnosis. A child with Marfan can have behavioral/ emotional challenges, even though that isn't a symptom of Marfan. People are complicated and can have different things going on simultaneously. |
I appreciate this information.
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amother
OP
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Sun, Jan 05 2020, 11:03 pm
| gamzehyaavor wrote: | | He’s the geneticist so he would be the one to discuss your initial concerns and which testing you should pursue/ what dx to rule out etc. just know that an appt to see him is a wait of months! His counselor is really nice and sweet as well btw. |
Good to know. I have sadly heard of so many diseases yet have never heard of this one. Is it not so we'll known?
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amother
Jade
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Sun, Jan 05 2020, 11:10 pm
Why don't you call an organization like Refuah Helpline? They will guide you for free and will be very helpful. I believe they have a staff member dedicated to genetic things like this. My friend used them and they were a lifesaver.
https://refuahhelp.org/
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Sunny Days
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Sun, Jan 05 2020, 11:12 pm
| amother [ OP ] wrote: | | Good to know. I have sadly heard of so many diseases yet have never heard of this one. Is it not so we'll known? |
there are some diseases more rare than others and many that are not so visible or similar to others. Most of us are not familiar with a
Every kind of syndrome/disorder out there... I happen to have heard about Marian when one of the magazines featured a diary serial of a young woman with Marfans but afaik I don’t know anyone personally. We saw Dr Pappas for a completely different reason and was extremely impressed so figured I’ll share that info so in case you see him- know you’re beh in good hands.
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amother
OP
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Sun, Jan 05 2020, 11:23 pm
| gamzehyaavor wrote: | there are some diseases more rare than others and many that are not so visible or similar to others. Most of us are not familiar with a
Every kind of syndrome/disorder out there... I happen to have heard about Marian when one of the magazines featured a diary serial of a young woman with Marfans but afaik I don’t know anyone personally. We saw Dr Pappas for a completely different reason and was extremely impressed so figured I’ll share that info so in case you see him- know you’re beh in good hands. |
Thanks for the info you have been very helpful.
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